Incidental Mutation 'R2398:Mocs1'
| ID |
248618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mocs1
|
| Ensembl Gene |
ENSMUSG00000064120 |
| Gene Name |
molybdenum cofactor synthesis 1 |
| Synonyms |
3110045D15Rik |
| MMRRC Submission |
040365-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2398 (G1)
|
| Quality Score |
96 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
49735390-49762463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49759862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 381
(I381T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024797]
[ENSMUST00000173033]
[ENSMUST00000173362]
[ENSMUST00000174647]
|
| AlphaFold |
Q5RKZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024797
AA Change: I381T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024797
Gene: ENSMUSG00000064120
AA Change: I381T
| Domain | Start | End | E-Value | Type |
|---|
|
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172871
|
| SMART Domains |
Protein: ENSMUSP00000134449
Gene: ENSMUSG00000064120
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mob_synth_C
|
1 |
86 |
8.6e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173033
AA Change: I381T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120
AA Change: I381T
| Domain | Start | End | E-Value | Type |
|---|
|
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
Pfam:MoaC
|
493 |
628 |
6.1e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173362
|
| SMART Domains |
Protein: ENSMUSP00000134265
Gene: ENSMUSG00000064120
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer4_12
|
67 |
197 |
5.8e-11 |
PFAM |
|
Pfam:Radical_SAM
|
74 |
199 |
2.5e-22 |
PFAM |
|
Pfam:Fer4_14
|
75 |
180 |
2.5e-9 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173430
AA Change: I29T
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224954
|
| Meta Mutation Damage Score |
0.2475 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation lack the cofactor molybdopterin and enzyme activities dependent on the cofactor (including sulfate oxidase and xanthine oxidase), have curly whiskers, and die between postnatal days 1 and 11. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,872 (GRCm39) |
D160G |
possibly damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,126,943 (GRCm39) |
F269S |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,555,006 (GRCm39) |
Q440* |
probably null |
Het |
| Cog2 |
T |
C |
8: 125,256,665 (GRCm39) |
I137T |
probably benign |
Het |
| Cse1l |
A |
G |
2: 166,770,917 (GRCm39) |
Y369C |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,806,029 (GRCm39) |
N3357D |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,409,500 (GRCm39) |
T209A |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,339,123 (GRCm39) |
A392T |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,821,695 (GRCm39) |
T123I |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,470,228 (GRCm39) |
I90F |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,928 (GRCm39) |
N42K |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,658,755 (GRCm39) |
M629V |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,863 (GRCm39) |
D58G |
possibly damaging |
Het |
| Krtap4-8 |
T |
C |
11: 99,671,103 (GRCm39) |
|
probably benign |
Het |
| Nbas |
A |
G |
12: 13,482,946 (GRCm39) |
T1408A |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,076 (GRCm39) |
F285S |
probably benign |
Het |
| Or8j3b |
T |
A |
2: 86,205,183 (GRCm39) |
D191V |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,459,166 (GRCm39) |
T445I |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,005,710 (GRCm39) |
K411E |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,129 (GRCm39) |
I443V |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,478,222 (GRCm39) |
S536P |
possibly damaging |
Het |
| Rnf10 |
C |
T |
5: 115,385,332 (GRCm39) |
R554H |
probably benign |
Het |
| Smarcc2 |
C |
T |
10: 128,305,551 (GRCm39) |
T325I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,667,136 (GRCm39) |
C1752F |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,733,431 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,060,613 (GRCm39) |
|
probably null |
Het |
| Tex52 |
T |
C |
6: 128,356,540 (GRCm39) |
S78P |
probably damaging |
Het |
| Tmem63c |
T |
G |
12: 87,103,307 (GRCm39) |
V27G |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,549,250 (GRCm39) |
N148S |
possibly damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,921 (GRCm39) |
I695V |
probably damaging |
Het |
| Wipf2 |
T |
A |
11: 98,789,543 (GRCm39) |
|
probably null |
Het |
| Zc3h18 |
A |
G |
8: 123,140,605 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,089,013 (GRCm39) |
N947K |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,329,573 (GRCm39) |
|
probably null |
Het |
| Zic2 |
G |
T |
14: 122,716,329 (GRCm39) |
E422* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,816,929 (GRCm39) |
D4E |
probably damaging |
Het |
|
| Other mutations in Mocs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Mocs1
|
APN |
17 |
49,742,292 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00473:Mocs1
|
APN |
17 |
49,740,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01565:Mocs1
|
APN |
17 |
49,759,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02822:Mocs1
|
APN |
17 |
49,746,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0321:Mocs1
|
UTSW |
17 |
49,740,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1313:Mocs1
|
UTSW |
17 |
49,761,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1313:Mocs1
|
UTSW |
17 |
49,761,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2155:Mocs1
|
UTSW |
17 |
49,761,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Mocs1
|
UTSW |
17 |
49,756,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Mocs1
|
UTSW |
17 |
49,761,613 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5566:Mocs1
|
UTSW |
17 |
49,761,211 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5751:Mocs1
|
UTSW |
17 |
49,756,766 (GRCm39) |
splice site |
probably null |
|
|
R6061:Mocs1
|
UTSW |
17 |
49,757,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6157:Mocs1
|
UTSW |
17 |
49,761,764 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6212:Mocs1
|
UTSW |
17 |
49,742,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Mocs1
|
UTSW |
17 |
49,742,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7047:Mocs1
|
UTSW |
17 |
49,759,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7270:Mocs1
|
UTSW |
17 |
49,756,143 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7395:Mocs1
|
UTSW |
17 |
49,761,585 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7522:Mocs1
|
UTSW |
17 |
49,742,292 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7872:Mocs1
|
UTSW |
17 |
49,746,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7953:Mocs1
|
UTSW |
17 |
49,761,799 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7954:Mocs1
|
UTSW |
17 |
49,761,799 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8119:Mocs1
|
UTSW |
17 |
49,756,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Mocs1
|
UTSW |
17 |
49,757,402 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9007:Mocs1
|
UTSW |
17 |
49,756,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Mocs1
|
UTSW |
17 |
49,740,303 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9181:Mocs1
|
UTSW |
17 |
49,756,801 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCAGCAATGTACATGAGGG -3'
(R):5'- AGGGGTTCTGCCATTCTATAGTC -3'
Sequencing Primer
(F):5'- CAATGTACATGAGGGGTTTGAC -3'
(R):5'- CTGCCATTCTATAGTCTAAAGGCGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation